A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054560



Internal ID6056376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39515085..39517330hg38UCSC Ensembl
Innerchr19:39515097..39517319hg38UCSC Ensembl
Outerchr19:39515074..39517342hg38UCSC Ensembl
chr19:40005725..40007970hg19UCSC Ensembl
Innerchr19:40005737..40007959hg19UCSC Ensembl
Outerchr19:40005714..40007982hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382246
hg192246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644330
Supporting Variants
SamplesHG01797
Known GenesSELV
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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